The difficulty in interpreting gene expression profiling in BAP-negative melanocytic tumors

Journal of Cutaneous Pathology
Andrew S Fischer, Whitney A High

Abstract

BAP-negative melanocytic tumors were unrecognized in the medical literature until 2011. While the clinical significance of these tumors is poorly understood, there is concern such lesions represent processes in transition, and malignant degeneration is a concern. We investigated use of a 23-gene expression profiling (23-GEP) test for distinction from melanoma with the aim of better characterizing the biologic potential of such tumors. Twenty BAP-negative melanocytic tumors, subjected to 23-GEP (Myriad Genetic Laboratories, Inc. [Salt Lake City, Utah]) testing, were retrospectively analyzed. Tumors exhibited varying degrees of atypia and aberrant immunohistochemical profiles. 23-GEP testing revealed a "malignant" genetic signature in four cases, a "benign" signature in 15 cases, and an "indeterminate" signature in one case. Array-based comparative genomic hybridization (aCGH) testing was performed for two cases with a "malignant" 23-GEP signature, but the aCGH result conflicted with 23-GEP, and supported benignity. Conversely, in one case with a "benign" 23-GEP result, aCGH testing supported assessment as melanoma. Moreover, evolving melanoma could not be wholly excluded by histopathological analysis in 2 "benign" cases. BAP-neg...Continue Reading

References

Aug 30, 2011·Nature Genetics·Thomas WiesnerMichael R Speicher
Mar 1, 2012·The American Journal of Surgical Pathology·Thomas WiesnerBoris C Bastian
Mar 3, 2015·Journal of Cutaneous Pathology·Loren E ClarkeSancy Leachman
Nov 13, 2015·The New England Journal of Medicine·Bert Vogelstein, Kenneth W Kinzler
Nov 13, 2015·The New England Journal of Medicine·A Hunter ShainBoris C Bastian

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Citations

Dec 4, 2021·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Michele DonatiDmitry V Kazakov

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